LAMP1 lysosomal associated membrane protein 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: LAMP1provided by HGNC
Official Full Name: lysosomal associated membrane protein 1provided by HGNC
Primary source: HGNC:HGNC:6499
See related: Ensembl:ENSG00000185896 MIM:153330; AllianceGenome:HGNC:6499
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: LAMPA; CD107a; LGP120
Summary: The protein encoded by this gene is a member of a family of membrane glycoproteins. This glycoprotein provides selectins with carbohydrate ligands. It may also play a role in tumor cell metastasis. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in kidney (RPKM 123.3), thyroid (RPKM 98.8) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 13q34

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	13	NC_000013.11 (113297239..113323672)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	13	NC_060937.1 (112550907..112577228)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	13	NC_000013.10 (113951554..113977987)

Chromosome 13 - NC_000013.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Lysosomal membrane proteins LAMP1 and LIMP2 are segregated in the Golgi apparatus independently of their clathrin adaptor binding motif.
Title: Lysosomal membrane proteins LAMP1 and LIMP2 are segregated in the Golgi apparatus independently of their clathrin adaptor binding motif.
Loss of RND3/RHOE controls entosis through LAMP1 expression in hepatocellular carcinoma.
Title: Loss of RND3/RHOE controls entosis through LAMP1 expression in hepatocellular carcinoma.
Lysosomal LAMP proteins regulate lysosomal pH by direct inhibition of the TMEM175 channel.
Title: Lysosomal LAMP proteins regulate lysosomal pH by direct inhibition of the TMEM175 channel.
Human LAMP1 accelerates Lassa virus fusion and potently promotes fusion pore dilation upon forcing viral fusion with non-endosomal membrane.
Title: Human LAMP1 accelerates Lassa virus fusion and potently promotes fusion pore dilation upon forcing viral fusion with non-endosomal membrane.
Porcine hemagglutinating encephalomyelitis virus induces atypical autophagy via opposite regulation of expression and nuclear translocation of transcription factor EB.
Title: Porcine hemagglutinating encephalomyelitis virus induces atypical autophagy via opposite regulation of expression and nuclear translocation of transcription factor EB.
Mitochondria-lysosome membrane contacts are defective in GDAP1-related Charcot-Marie-Tooth disease.
Title: Mitochondria-lysosome membrane contacts are defective in GDAP1-related Charcot-Marie-Tooth disease.
Lysosomal protein surface expression discriminates fat- from bone-forming human mesenchymal precursor cells.
Title: Lysosomal protein surface expression discriminates fat- from bone-forming human mesenchymal precursor cells.
Leishmania aethiopica cell-to-cell spreading involves caspase-3, AkT, and NF-kappaB but not PKC-delta activation and involves uptake of LAMP-1-positive bodies containing parasites.
Title: Leishmania aethiopica cell-to-cell spreading involves caspase-3, AkT, and NF-κB but not PKC-δ activation and involves uptake of LAMP-1-positive bodies containing parasites.
Deacetylation of LAMP1 drives lipophagy-dependent generation of free fatty acids by Abrus agglutinin to promote senescence in prostate cancer.
Title: Deacetylation of LAMP1 drives lipophagy-dependent generation of free fatty acids by Abrus agglutinin to promote senescence in prostate cancer.
Hyperglycosylated LAMP1 is associated with the neuro-inflammatory phenotype of Niemann-Pick disease, type C.
Title: Abnormal LAMP1 glycosylation may play a role in Niemann-Pick disease, type C pathology.

Submit: New GeneRIF Correction See all GeneRIFs (61)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	Ab-dependent activation of NK cells to upregulate the expression of CD107a is most robust when the NK cells are stimulated with HIV-1 gp120-coated primary T cells in the presence of HIV-1 infected plasma	PubMed
	env	HIV-1 gp120 co-localizes with LAMP-1 in human plasmacytoid dendritic cells	PubMed
Envelope surface glycoprotein gp160, precursor	env	HIV-1 Env co-localizes with LAMP1 in lysosomes	PubMed
	env	LAMP1 localizes to endosome compartments and is incorporated into the viral envelope of macrophage-derived HIV-1 particles	PubMed
Envelope transmembrane glycoprotein gp41	env	HIV-1 gp41 mutants W614A, S615A, N616A, and S618A downregulates the cellular surface expression of CD107a on NK-cells	PubMed
Nef	nef	HIV-1 Nef sequesters HLA-I A2 and co-localizes with CD63 and LAMP1 markers in late endosomes and lysosomes	PubMed
	nef	Both HIV-1 Nef and Vpu downregulate the cell surface expression of lysosomal-associated membrane protein 1 (CD107a)	PubMed
	nef	The proportion of HIV-1 Nef-specific CD8+ T cells endowed with TNF-alpha+, IFN-gamma+, CD107a+, and MIP-1beta+ is significantly higher in patients with the lowest virus set point than those with the highest virus set point	PubMed
	nef	HIV-1 Nef co-localizes with CXCR4, AIP4, NEDD4, CD63/LAMP-1-positive vesicles, and HRS/VPS27-positive ESCRT-0 structures in HeLa cells	PubMed
Pr55(Gag)	gag	Co-localization of HIV-1 Gag virus-like particles in THP-1/CD169YF cells is reduced within CD81+ compartments, but enhanced within CD63+ or LAMP1+ compartments	PubMed
	gag	The proportion of HIV-1 Gag-specific CD8+ T cells endowed with TNF-alpha+, IFN-gamma+, CD107A+, and MIP-1beta+ is significantly higher in patients with the lowest virus set point than those with the highest virus set point	PubMed
	gag	LAMP-mediated upregulation of HIV-1 LAMP-Gag fusion protein expression is dependent on the LAMP luminal domain, leading to induce LAMP-Gag secretion through exosomes	PubMed
	gag	In human macrophages, HIV-1 Gag proteins co-localize with MHC II (HLA-DR), CD63, and Lamp1 in MHC II compartments	PubMed
	gag	HIV-1 Gag co-localizes with Rab7-, Rab9-, and LAMP1-containing membranes at cytoplasmic and juxtanuclear sites in Staufen1-depleted cells	PubMed
	gag	HIV-1 Gag and viral RNA co-localize with LAMP1 in lysosomes	PubMed
	gag	Gag myristoylation is important for the co-trafficking of HIV-1 RNA and Gag on LAMP-1+ membranes. Gag nucleocapsid mutations lead to a loss of colocalization between LAMP-1 and HIV-1 RNA or Gag	PubMed
	gag	HIV-1 RNA is distributed throughout the cytoplasm in a punctate pattern, at the plasma membrane , and partially co-localizes with both Gag and LAMP-1 in the perinuclear region	PubMed
Tat	tat	HIV-1 Tat upregulates LAMP1 on the surface of primary astrocytes, which is a measurement for lysosomal exocytosis	PubMed
Vpr	vpr	HIV-1 YU-2 or ADA Vpr inhibits LAMP1 recruitment to and maturation of phagosomes in primary human macrophages	PubMed
	vpr	HIV-1 Vpr abrogates co-localization of LAMP1 with HIV-1 MA (p17) (lysosomal targeting) in monocyte-derived macropaphages	PubMed
	vpr	HIV-1 Vpr impairs NK cell function through cytokine dysregulation, including diminshed expression of CD107a, reduced production of IFN-gamma, differential regulation of IL-12 and TGF-beta, and activation of the Smad3 signalling pathway	PubMed
Vpu	vpu	Both HIV-1 Nef and Vpu downregulate the cell surface expression of lysosomal-associated membrane protein 1 (CD107a)	PubMed
	vpu	Expression of HIV-1 Vpu induces co-localization of tetherin with early endosome protein EEA-1 or late endosome protein LAMP-1	PubMed
capsid	gag	HIV-1 CA-stimulated CD8+ T cells upregulate CD107 expression compared to unstimulated cells	PubMed
	gag	In human macrophages, HIV-1 Capsid (p24) co-localizes with MHC II (HLA-DR), CD63, and Lamp1 in MHC II compartments	PubMed
matrix	gag	HIV-1 MA (p17) colocalizes with LAMP1 (lysosomal targeting) in the absense of Vpr in monocyte-derived macrophages	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D11S2921 (e-PCR)
- UniSTS:152074

WI-9160 (e-PCR)
- UniSTS:30087

RH44107 (e-PCR)
- UniSTS:21980

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables enzyme binding	IPI Inferred from Physical Interaction more info	PubMed
enables ion channel inhibitor activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein domain specific binding	IEA Inferred from Electronic Annotation more info
enables virus receptor activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in Golgi to lysosome transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in establishment of protein localization to organelle	IBA Inferred from Biological aspect of Ancestor more info
involved_in establishment of protein localization to organelle	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in granzyme-mediated programmed cell death signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in lysosomal lumen acidification	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of natural killer cell degranulation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of natural killer cell mediated cytotoxicity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein stabilization	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of organelle transport along microtubule	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in symbiont entry into host cell	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in autolysosome	IEA Inferred from Electronic Annotation more info
located_in autophagosome membrane	IEA Inferred from Electronic Annotation more info
located_in azurophil granule membrane	TAS Traceable Author Statement more info
located_in cytolytic granule membrane	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IEA Inferred from Electronic Annotation more info
located_in endosome membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in external side of plasma membrane	IEA Inferred from Electronic Annotation more info
located_in extracellular exosome	HDA more info	PubMed
located_in ficolin-1-rich granule membrane	TAS Traceable Author Statement more info
located_in late endosome	IDA Inferred from Direct Assay more info	PubMed
is_active_in late endosome membrane	IBA Inferred from Biological aspect of Ancestor more info
is_active_in lysosomal membrane	IBA Inferred from Biological aspect of Ancestor more info
is_active_in lysosomal membrane	IDA Inferred from Direct Assay more info	PubMed
located_in lysosomal membrane	ISS Inferred from Sequence or Structural Similarity more info
colocalizes_with lysosome	IDA Inferred from Direct Assay more info	PubMed
located_in lysosome	IDA Inferred from Direct Assay more info	PubMed
located_in melanosome	IEA Inferred from Electronic Annotation more info
located_in membrane	HDA more info	PubMed
located_in multivesicular body	IEA Inferred from Electronic Annotation more info
located_in perinuclear region of cytoplasm	IMP Inferred from Mutant Phenotype more info	PubMed
located_in phagolysosome membrane	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
located_in sarcolemma	IEA Inferred from Electronic Annotation more info
located_in synaptic vesicle	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: lysosome-associated membrane glycoprotein 1

Names: CD107 antigen-like family member A; LAMP-1; lysosome-associated membrane protein 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_005561.4 → NP_005552.3 lysosome-associated membrane glycoprotein 1 precursor

See identical proteins and their annotated locations for NP_005552.3

Status: REVIEWED

Source sequence(s)

AL136221

Consensus CDS

CCDS41909.1

UniProtKB/Swiss-Prot

B4DWL3, P11279, Q8WU33, Q96I40, Q9BRD2, Q9NP13

Related

ENSP00000333298.4, ENST00000332556.5

Conserved Domains (2) summary

cd12087
Location:381 → 411

TM_EGFR-like; Transmembrane domain of the Epidermal Growth Factor Receptor family of Protein Tyrosine Kinases

pfam01299
Location:221 → 365

Lamp; Lysosome-associated membrane glycoprotein (Lamp)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000013.11 Reference GRCh38.p14 Primary Assembly

Range

113297239..113323672

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047430302.1 → XP_047286258.1 lysosome-associated membrane glycoprotein 1 isoform X2

UniProtKB/TrEMBL

B3KRY3
XM_011537494.3 → XP_011535796.1 lysosome-associated membrane glycoprotein 1 isoform X1

Conserved Domains (1) summary

cd12087
Location:362 → 392

TM_EGFR-like; Transmembrane domain of the Epidermal Growth Factor Receptor family of Protein Tyrosine Kinases